Canonical Allele Identifier: CA2802084

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001873C>T , CM000666.2:g.1001873C>T	GRCh38
NC_000004.11:g.995661C>T , CM000666.1:g.995661C>T	GRCh37
NC_000004.10:g.985661C>T	NCBI36
NG_008103.1:g.19877C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.784C>T MANE Select	NP_000194.2:p.His262Tyr
ENST00000514224.2:c.784C>T MANE Select	ENSP00000425081.2:p.His262Tyr
NM_000203.4:c.784C>T	NP_000194.2:p.His262Tyr
NM_001363576.1:c.388C>T	NP_001350505.1:p.His130Tyr
NR_110313.1:n.872C>T
ENST00000247933.8:c.784C>T	ENSP00000247933.4:p.His262Tyr
ENST00000247933.9:c.784C>T	ENSP00000247933.4:p.His262Tyr
ENST00000502910.5:c.643C>T	ENSP00000422952.1:p.His215Tyr
ENST00000514192.5:c.601C>T	ENSP00000423685.1:p.His201Tyr
ENST00000514224.1:c.388C>T	ENSP00000425081.1:p.His130Tyr
ENST00000514698.5:n.684C>T
ENST00000652070.1:n.840C>T
XM_006713882.2:c.388C>T	XP_006713945.1:p.His130Tyr
XM_011513459.1:c.643C>T	XP_011511761.1:p.His215Tyr
XM_011513460.1:c.643C>T	XP_011511762.1:p.His215Tyr
XM_011513461.1:c.577C>T	XP_011511763.1:p.His193Tyr
XM_011513461.2:c.577C>T	XP_011511763.1:p.His193Tyr
XM_011513462.1:c.496C>T	XP_011511764.1:p.His166Tyr
XM_011513463.1:c.496C>T	XP_011511765.1:p.His166Tyr
XM_017008163.1:c.-177C>T	XP_016863652.1:n.-177C>T
XR_924947.1:n.853C>T